The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct
| Autor: | John H. Greinwald, Daniel I. Choo, Colm Madden, Carla Nishimura, Mark J. Halsted, Corning Benton, Dianna Bardo, Tao Yang, Mark Boston, Ellis M. Arjmand, Richard J.H. Smith, Jareen Meinzen-Derr, Vijay Das |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Vestibular aqueduct Adolescent Genotype Hearing loss Hearing Loss Sensorineural Population Audiology Vestibular Aqueduct Temporal bone otorhinolaryngologic diseases medicine Humans education Child Pendred syndrome Retrospective Studies education.field_of_study medicine.diagnostic_test business.industry Infant Membrane Transport Proteins Temporal Bone General Medicine medicine.disease medicine.anatomical_structure Phenotype Otorhinolaryngology Sulfate Transporters Vestibule Child Preschool Mutation Audiometry Pure-Tone Surgery Female sense organs medicine.symptom Audiometry business Enlarged vestibular aqueduct |
| Zdroj: | Archives of otolaryngology--headneck surgery. 133(2) |
| ISSN: | 0886-4470 |
| Popis: | To correlate genetic and audiometric findings with a detailed radiologic analysis of the temporal bone in patients with enlarged vestibular aqueduct (EVA) to ascertain the contribution of SLC26A4 gene mutations to this phenotype.A retrospective review of patients with EVA identified in a database of pediatric hearing-impaired patients.A tertiary care pediatric referral center.Seventy-one children with EVA and screening results for SLC26A4 mutations.Genetic screening results, audiometric thresholds, and radiographic temporal bone measurements.Seventy-one children with EVA were screened for SLC26A4 mutations. Mutations were found in 27% of children overall, while only 8% had biallelic mutations. The mean initial pure-tone average (PTA) was 59 dB; the mean final PTA was 67 dB. A bilateral EVA was found in 48 (67%) of the children; a unilateral EVA was found in 23 (33%). Progressive hearing loss (in at least 1 ear) was seen in 29 (41%) of the patients. The strongest genotype-phenotype interaction was seen in children with a bilateral EVA. Among children with SLC26A4 mutations, there was a significantly wider vestibular aqueduct at the midpoint and a wider vestibule width (P.05) than in children without the mutation. Among patients with a bilateral EVA, children with any SLC26A4 mutation were more likely to have a more severe final PTA (64 dB vs 32 dB), larger midpoint measurement (2.1 vs 1.1 mm), and larger operculum measurement (3.0 vs 2.0 mm) than those without the mutation in their better-hearing ear (P.05).In a population of pediatric patients with an EVA and hearing loss, SLC26A4 mutations are a contributor to the phenotype. Our data suggest that other genetic factors also have important contributions to this phenotype. The presence of an abnormal SLC26A4 allele, even in the heterozygous state, was associated with greater enlargement of the vestibular aqueduct, abnormal development of the vestibule, and possibly a stable hearing outcome. |
| Databáze: | OpenAIRE |
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